A5063873478- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Acute Lymphoblastic Leukemia research
- Epigenetics and DNA Methylation
- Autoimmune Neurological Disorders and Treatments
- Advanced biosensing and bioanalysis techniques
- Congenital heart defects research
- Mosquito-borne diseases and control
- Diet and metabolism studies
- RNA regulation and disease
- Vector-borne infectious diseases
- Adenosine and Purinergic Signaling
- Cutaneous lymphoproliferative disorders research
- Genetic factors in colorectal cancer
- Insect and Pesticide Research
- DNA Repair Mechanisms
- Genetic and Kidney Cyst Diseases
- Pharmacological Effects and Toxicity Studies
- Polyomavirus and related diseases
- T-cell and Retrovirus Studies
- Cellular transport and secretion
- Infectious Encephalopathies and Encephalitis
- Acute Myeloid Leukemia Research
Université de Strasbourg
2018-2025
Inserm
2022-2025
Centre National de la Recherche Scientifique
2022-2025
Hôpitaux Universitaires de Strasbourg
2018-2024
Institut de génétique et de biologie moléculaire et cellulaire
2022-2024
Hôpital d'Hautepierre
2021-2024
Génétique Médicale & Génomique Fonctionelle
2024
Institut de Biologie Moléculaire et Cellulaire
2021
Royal United Hospital
1992
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon‐like craniosynostosis disorder, officially termed and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode inheritance. We identified six missense mutations IL11RA, gene encoding alpha subunit interleukin 11 receptor, 4 them being novel, including 2 Ig‐like C2‐type domain. A subset had associated connective tissue...
Abstract Background Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses very wide spectrum of clinical severity levels ranging from severe prenatal onset mild adult-onset subtypes. The rarity, complexity variability the disease make early diagnosis assessment difficult. Based on similar approaches in other neurodegenerative disorders, we propose validate diagnostic scores for syndrome. Methods...
To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and explore the effects on neuronal network dynamics homeostatic plasticity human-induced pluripotent stem cell-derived neurons.
DYRK1A and Wiedemann-Steiner syndromes (WSS) are two genetic conditions associated with neurodevelopmental disorders (NDDs). Although their clinical phenotype has been described, behavioral not systematically studied using standardized assessment tools. To characterize the latter, we conducted a retrospective study, collecting data on developmental history, autism spectrum disorder (ASD), adaptive functioning, assessments, sensory processing of individuals these (n = 14;21). In addition,...
Background Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( DNMT3A )-overgrowth (DOS), was first described by Tatton-Brown in 2014. This is characterised overgrowth, intellectual disability and distinctive facial features the consequence of germline loss-of-function variants , which encodes a involved epigenetic regulation. Somatic are frequently observed haematological malignancies, including acute myeloid leukaemia (AML). To date, 100...
Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear‐pore complex (NPC) gene NUP62 , involved in nucleo‐cytoplasmic trafficking. By querying sequencing‐datasets patients with dystonia and/or Leigh(‐like) syndromes, we identified 3 unrelated individuals biallelic variants NUP54 . All clustered C‐terminal protein region that interacts NUP62. Associated phenotypes were similar to those ‐related disease, including early‐onset dysphagia, choreoathetosis, and...
Anti-NMDAR encephalitis (NMDARE) is a severe neurologic condition, and recently, the NMDAR Encephalitis One-Year Functional Status (NEOS) score has emerged as 1-year prognostic tool. This study aimed to evaluate NEOS biomarker (neurofilament light chains [NfL], total-Tau protein, glial fibrillary acidic serum cytokines) correlation with modified Rankin Scale (mRS), cognitive impairment, clinical recovery in pediatric NMDARE over 2 years. In this French multicenter observational study, 104...
Abstract Nucleotide excision repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under‐investigated underdiagnosed, even although an recognition the first symptoms is utmost importance for appropriate care genetic counseling. We systematically collected clinical molecular data from literature newly diagnosed NER patients with neurological impairment, presenting before age 12 months, including foetal cases. One hundred...
"Generalized Onset with Focal Evolution" (GOFE) is an underrecognized seizure type defined by evolution from generalized onset to focal activity during the same ictal event. We aimed discuss electroclinical aspects of GOFE and emphasize its link Genetic Generalized Epilepsy (GGE). Patients were identified retrospectively over 10 years, using video-EEG data base Unit Strasbourg University Hospital. was defined, as previously reported, EEG point view Three male patients among 51 recorded...
Abstract Cerebro‐oculo‐facio‐skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we describe detailed morphological microscopic phenotype three fetuses from two families harboring ERCC5/XPG likely pathogenic variants, review five previously reported fetal cases. In addition classical features COFS, display thymus...